What are the recommendations for cardiologist care in adults with Down syndrome?

Cardiologist Care in Adults with Down Syndrome

Adults with Down syndrome require regular cardiologist follow-up with specialists experienced in adult congenital heart disease (ACHD), given the 40-50% prevalence of congenital heart defects and the significant risk of acquired cardiovascular disease throughout their lifespan. 1, 2

Initial Cardiac Assessment

All adults with Down syndrome should undergo comprehensive cardiac evaluation including:

• Echocardiography to assess for congenital heart defects (present in up to 50% of cases), particularly atrioventricular septal defects (AVSD), patent ductus arteriosus, and atrial septal defects 1, 2
• Evaluation for acquired mitral valve disease, which develops even in those without congenital heart defects 3
• Assessment for pulmonary hypertension, a common comorbidity that significantly impacts outcomes 4, 2
• Screening for cardiac arrhythmias, as atrial arrhythmias may indicate underlying hemodynamic abnormalities 1

Ongoing Cardiologist Follow-Up

Frequency of Care

All adults with Down syndrome and congenital heart disease should be evaluated by and have periodic follow-up with a cardiologist who has expertise in ACHD. 1 The frequency depends on the complexity of cardiac disease:

• Repaired AVSD with minimal residua: Annual follow-up 1
• Moderate complexity lesions: Every 6-24 months depending on residual abnormalities 1
• Complex lesions or significant residua: Every 3-12 months 1

Surveillance Testing

Regular imaging and monitoring should include:

• Serial echocardiography (typically annual) performed by staff trained in complex congenital heart defects, with specific attention to atrioventricular valve function and left ventricular outflow tract obstruction 1
• Periodic 24-hour ambulatory ECG monitoring to assess for rhythm abnormalities, particularly late-onset complete heart block which can occur years after AVSD repair 1
• Periodic cardiopulmonary exercise testing to objectively assess functional capacity 1

Specialist Expertise Requirements

Cardiologists caring for adults with Down syndrome must have specific training and expertise in ACHD, as these patients represent a growing population in tertiary ACHD clinics. 1 Key considerations include:

• Surgeons with training and expertise in congenital heart disease should perform any cardiac operations 1
• Cardiac catheterization and interventional procedures should be performed by ACHD specialists 1
• Every adult with Down syndrome should have a referral relationship with a regional ACHD center to ensure geographically accessible specialized care 1

Multisystem Screening by the Cardiologist

Because the cardiologist may be the only regular healthcare provider for adults with Down syndrome, careful screening for coexisting conditions and appropriate referrals are essential. 1 The cardiologist should screen for or coordinate screening for:

• Hypothyroidism (develops in up to 50% of adults) 1, 3
• Sleep apnea (present in approximately 50%), which impacts cardiovascular risk 1, 3
• Obesity and metabolic disorders, which contribute to atherosclerotic disease risk 1, 2
• Atlantoaxial instability, requiring cervical spine imaging before any procedure requiring general anesthesia 1, 3
• Depression and Alzheimer's disease, which become increasingly common after age 30 1, 3

Stroke Risk Management

Adults with Down syndrome have a 2.7-fold increased risk of cerebrovascular events compared to age-matched controls, with particularly high risk in females (3.3-fold) and those ≤50 years old. 4 This elevated stroke risk is:

• Primarily driven by cardioembolic mechanisms rather than atherosclerotic disease 4
• Substantially related to congenital heart disease, cardiac arrhythmias, and pulmonary hypertension 4
• Present across all ages, necessitating vigilant cardiovascular risk factor management 4

Pregnancy Counseling

For women with Down syndrome and congenital heart disease:

• All women with a history of AVSD should be evaluated before conception to ensure no significant residual hemodynamic lesions that might complicate pregnancy 1
• The issue of pregnancy risk and preventive measures should be discussed with women with Down syndrome and their caregivers 1
• Pregnancy is generally well tolerated in those with repaired defects and no major residua, but is contraindicated with severe pulmonary hypertension 1
• Women have a 50% risk of transmitting trisomy 21 to offspring, warranting reproductive counseling 1

Anesthesia Considerations

Sedation or general anesthesia is often necessary for routine procedures in adults with Down syndrome, and the risks must be carefully reviewed by CHD specialists. 1 This includes:

• Dental procedures requiring endocarditis prophylaxis in high-risk patients 1
• Diagnostic procedures requiring immobility 1
• Mandatory cervical spine imaging before any anesthesia due to atlantoaxial instability risk 1, 3

Care Coordination

Clarity about which healthcare provider serves as the medical "home" is essential given the multiplicity of comorbidities. 1 The ACHD specialist should work closely with a primary physician who accepts this responsibility, ensuring:

• Current clinical records are on file with the primary care physician, local cardiovascular specialist, and regional ACHD center 1
• Patients and caregivers have copies of relevant records 1
• Appropriate referrals to endocrinology, genetic counseling, psychiatry, and vocational rehabilitation 1

Common Pitfalls to Avoid

• Do not assume cardiovascular risk is limited to congenital defects: Acquired mitral valve disease, pulmonary hypertension, and stroke risk persist throughout life 3, 4, 2
• Do not delay evaluation of new cardiac symptoms: Onset of atrial arrhythmias should prompt immediate search for underlying hemodynamic abnormalities 1
• Do not overlook the need for specialized ACHD expertise: General cardiologists without specific ACHD training should not independently manage moderate or complex congenital heart disease 1
• Do not neglect informed consent issues: Many adults with Down syndrome require legal surrogates for medical decision-making, and advance directives should be completed during periods of stability 1